'I Was Diagnosed With a Rare Genetic Condition At 20—These Are the First Symptoms I Noticed'

Sean Korbitz was a 20-year-old college student when he first started experiencing symptoms of von Hippel-Lindau syndrome , although he didn’t know that’s what it was at the time. Affecting one in 36,000 people , von Hippel-Lindau (VHL) is caused by a mutation in the VHL gene and causes tumors to grow in certain parts of the body, including the brain, spinal cord, adrenal glands, inner ear, pancreas, kidney and reproductive tract. As was the case with Korbitz, the earliest symptoms often occur in early adulthood.

Here, Korbitz shares what his earliest symptoms were, what managing the health condition has been like and the medication that was a complete game-changer.

Related: 'I Was Diagnosed With a Rare Heart Condition At 25—This Unexpected Symptom Was a Huge Red Flag'

The Initial Symptoms of von Hippel-Lindau Syndrome

In 2007, Korbitz was 20 years old and attending college at Colorado State University when he started experiencing some unusual symptoms. “I experienced numbness in my pinky finger and it worked its way up progressively through my hand and arm. Then, my toes got numb,” he says. Korbitz also started throwing up every morning.

Young and healthy, Korbitz certainly didn’t think his symptoms were the cause of anything serious. “I figured that maybe it was because of hormonal changes or something in my diet,” he says. After a month of the numbness and morning sickness not going away, he saw his primary care doctor. When an endoscopy didn’t show anything wrong, Korbitz then got an MRI, which showed a tumor at the base of his brain stem.

Related: 10 Rare Autoimmune Diseases That Don't Get Enough Attention

Korbitz was scheduled for emergency brain surgery to have the tumor removed. After removing the tumor, it was sent for a biopsy, which then showed that Korbitz had von Hippel-Lindau syndrome.

Though VHL is a genetic condition, neither one of Korbitz’s parents had it. His sister also tested negative. This can happen in 20% of cases . While Korbitz’s initial symptoms were finger numbness and nausea due to the placement of the tumor, initial symptoms of VHL can vary; it depends on where the tumor (or tumors) are located. Other potential initial symptoms of VHL are hearing loss, balance problems, difficulty walking, trouble swallowing, headaches, poor concentration, vision loss or difficulties with bowel or bladder function.

Related: Fitness Influencer Lexi Reed, 32, Shares 'Vulnerable' Health Update After Fighting a Rare Disease

How von Hippel-Lindau Syndrome is Treated

Korbitz’s emergency brain surgery was successful in removing the tumor but had devastating complications. “On the second day after surgery, I ended up getting paralyzed on the entire right hemisphere of my body,” Korbitz says. This was because the tumor was a blood vessel tumor (formed from cells that create blood vessels) and several nerves were severed during the surgery. The doctors couldn’t tell Korbitz how long the paralysis would last or even if it would ever subside.

“That was one of my lowest times. I just felt like I was young and life was passing me by. Everyone was moving ahead with their lives and I couldn’t,” Korbitz says. The doctors refused to let him leave the hospital, where he stayed for 30 days, which was when, fortunately, he regained sensation in the right side of his body. But due to how long he was in a hospital bed unable to move, Korbitz had to learn to walk all over again because his muscles had atrophied.

When Korbitz was discharged, he was told to get a CAT scan every year to identify any new forming tumors early. (He notes that this protocol isn’t recommended anymore because CAT scans have a high dose of radiation.) But without health insurance, Korbitz couldn’t afford to follow the doctors’ advice and it wasn’t until eight years later when he went in for a scan. When he did, the scan showed 11 new tumors, including a regrowth of the initial one they removed at the base of his brainstem.

To remove the new tumors, doctors used a robotic targeted radiation system called gamma knife therapy, which fries the tumors. This prevents having to dose the entire body with radiation. The treatment was successful for Korbitz, except for eliminating the re-emerged tumor at the base of his brainstem, so he underwent brain surgery again to have it removed. Fortunately this time, there were no complications.

In 2021 everything changed when Korbitz was prescribed a new medication, belzutifan , available under the brand name Welireg . The medication works by stopping VHL in its tracks, preventing tumors from forming and even decreasing the size of existing tumors. “I had about 10 brain tumors when I started the medication and now I’m down to one,” Korbitz says, of his experience with the drug. The drug has a high success rate for others with VHL too. One scientific study showed a progression-free survival rate of 96% of people after 26 months of taking it.

Still, it isn’t without its complications. Anemia is a common side effect of belzutifan and Korbitz says is the worst symptom he experiences now, often making him fatigued and weak. But with his VHL under control, Korbitz is able to live a full life, including working full-time at a job he enjoys that offers health benefits that allow him access to ongoing medical care and his medication.

Health Advice You Can Learn From

One major lesson that can be learned from Korbitz’s experience is to know your body and see your doctor if anything at all feels off—even if it’s as minor as numbness in your pinky. If something isn’t normal for you, see your primary care physician.

Korbitz says a big lesson he learned first-hand is the importance of being your own health advocate. There were times when Korbitz pushed back on what a doctor recommended, seeking second opinions or listening to his gut when something didn’t feel right, and he’s glad he did. While it’s certainly important to take doctors’ advice seriously, it’s also important to do your own research and advocate for what you feel is best.

Last but certainly not least, if you have a chronic health condition, Korbitz says to find your people. For him, the Von Hippel Lindau Alliance has been an incredible resource, connecting him to other people with VHL and keeping him (and others with VHL) informed on the latest scientific advancements in treatment. A non-profit, they also help people with VHL access doctors, tests and medications they may not otherwise be able to afford.

Remember, no matter what you are going through, you are not alone. See your doctor if something unusual is going on with your body, advocate for the healthcare you want and find your community. In taking this advice, you’ll be being proactive about your health. And that can truly be life-saving.

Up Next:

Related: Celine Dion Opens Up About Rare Incurable Health Diagnosis

Sources

• von Hippel-Lindau syndrome. National Cancer Institute.
• Von Hippel-Lindau (VHL). Johns Hopkins Medicine.
• Von Hippel-Lindau disease. Orphanet.
• von Hippel-Lindau Disease Symptoms. The University of Texas MD Anderson Cancer Center.
• Belzutifan for Renal Cell Carcinoma in von Hippel-Lindau Disease. New England Journal of Medicine. 2021.